[article]
| Titre : |
SHANK3 haploinsufficiency: a common but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur |
| Année de publication : |
2013 |
| Article en page(s) : |
8 p. |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Autism spectrum disorders (ASD) are etiologically heterogeneous, with hundreds of rare, highly penetrant mutations and genomic imbalances involved, each contributing to a very small fraction of cases. As reviewed here, Phelan-McDermid syndrome, caused by deletion of 22q13.33 or SHANK3 mutations, is one of the more prevalent monogenic causes of ASD, explaining at least 0.5% of cases. In this issue of Molecular Autism, Soorya and colleagues evaluated 32 patients with SHANK3 haploinsufficiency using gold-standard diagnostic assessments and showed that 84% met criteria for ASD, including 75% meeting criteria for autism. This study and prior studies demonstrate that this syndrome is also one of the more penetrant causes of ASD. We note that SHANK3 haploinsufficiency remains underdiagnosed, although with the increasingly widespread use of chromosomal microarray analysis and targeted sequencing of SHANK3, the number of cases is bound to rise. |
| En ligne : |
http://dx.doi.org/10.1186/2040-2392-4-17 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 |
in Molecular Autism > (June 2013) . - 8 p.
[article] SHANK3 haploinsufficiency: a common but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders [Texte imprimé et/ou numérique] / Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur . - 2013 . - 8 p. Langues : Anglais ( eng) in Molecular Autism > (June 2013) . - 8 p.
| Index. décimale : |
PER Périodiques |
| Résumé : |
Autism spectrum disorders (ASD) are etiologically heterogeneous, with hundreds of rare, highly penetrant mutations and genomic imbalances involved, each contributing to a very small fraction of cases. As reviewed here, Phelan-McDermid syndrome, caused by deletion of 22q13.33 or SHANK3 mutations, is one of the more prevalent monogenic causes of ASD, explaining at least 0.5% of cases. In this issue of Molecular Autism, Soorya and colleagues evaluated 32 patients with SHANK3 haploinsufficiency using gold-standard diagnostic assessments and showed that 84% met criteria for ASD, including 75% meeting criteria for autism. This study and prior studies demonstrate that this syndrome is also one of the more penetrant causes of ASD. We note that SHANK3 haploinsufficiency remains underdiagnosed, although with the increasingly widespread use of chromosomal microarray analysis and targeted sequencing of SHANK3, the number of cases is bound to rise. |
| En ligne : |
http://dx.doi.org/10.1186/2040-2392-4-17 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 |
|
SHANK3 haploinsufficiency: a common but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders in Molecular Autism, (June 2013)
